International Mammalian Genome Society

The 13th International Mouse Genome Conference
October 31-November 3, 1999

Table of Contents * Structure * Bioinformatics * Sequence * Mapping * New Tools * Gene Discovery * Developmental * Mutagenesis * Functional Genomics

F12 Genetic and Physical Mapping of the Mouse Myelencephalic Blebs and Blebbed Mutations

Liz Bentley and Susan M. Darling. Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, UK

Myelencephalic blebs (my) and blebbed (bl) are recessively inherited mutations which develop fluid filled blisters or 'blebs' at 12-14dpc. my/my and bl/bl new born and adult mice have similar eye, foot, hair, skin and kidney abnormalities. Although the my and bl phenotypes are very similar, they are not allelic, with my mapping to mouse Chr 3 and bl to mouse Chr 5. A positional cloning strategy is being employed to identify the genetic basis of these two mutations. Two intersubspecific backcrosses independently segregating the my and bl mutations have been set up using the wild-derived strain Mus musculus castaneus.

Using 1176 my backcross progeny we have mapped my to an approximately 1.4cM region on mouse Chr 3 flanked by D3Mit184 and D3Mit275. YACs and PACs have been isolated using flanking microsatellite markers and YAC end fragments and a contig encompassing the my critical region is nearing completion. Three genes (Kcnab1, Mme, Pfn2) have been mapped and excluded genetically as candidate genes for my, two others (Shox2 and Trrp4) are still under investigation.

From the initial analysis of 482 bl backcross progeny we have mapped bl to a 3.7cM region on mouse Chr 5 flanked by D5Mit361 and Fgf5go. Further genetic and physical mapping in this region is currently underway.


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